Journal
ANNALS OF NEUROLOGY
Volume 54, Issue 2, Pages 163-169Publisher
WILEY
DOI: 10.1002/ana.10636
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Funding
- NIA NIH HHS [P01 AG03991, AG05681] Funding Source: Medline
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We previously have identified a large kindred from Colombia in which Alzheimer's disease (AD) is caused by the E280A presenilin 1 (PSI) mutation. The objective of this study was to examine whether environmental and genetic factors are responsible for variation in the phenotypic expression of the E280A PSI mutation. We genotyped coding and promoter polymorphisms of the APOE gene in carriers of the E280A PSI mutation. Kaplan-Meier product-limit and Cox proportional hazard models were used in the statistical analyses. DNA was available from 114 carriers of the E280A PSI mutation, including 52 subjects with AD. APOE 64 allele carriers were more likely to develop AD at an earlier age than subjects without the epsilon4 allele (hazard ratio, 2.07; 95% confidence interval, 1.07-3.99; p = 0.030). Subjects with low education were more likely to develop AD later than those with higher education (hazard ratio, 0.476; 95% confidence interval, 0.26-0.87). Low educational level was associated with rural residence (p < 0.001). Promoter APOE variants did not influence either the onset or the duration of the disease. This study is the first to our knowledge to demonstrate that genetic and environmental factors influence age of onset in a kindred with a familial AD mutation.
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